ClinVar

NM_022552.5(DNMT3A):c.2598-62G>A

Gene:

DNMT3A:DNA methyltransferase 3 alpha [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2p23.3

Genomic location:

• Chr2: 25234482 (on Assembly GRCh38)
• Chr2: 25457351 (on Assembly GRCh37)

Preferred name:

NM_022552.5(DNMT3A):c.2598-62G>A

HGVS:

• NC_000002.12:g.25234482C>T
• NG_029465.2:g.113109G>A
• NM_001320893.1:c.2142-62G>A
• NM_001375819.1:c.1929-62G>A
• NM_022552.5:c.2598-62G>AMANE SELECT
• NM_153759.3:c.2031-62G>A
• NM_175629.2:c.2598-62G>A
• LRG_459t2:c.2031-62G>A
• LRG_459t4:c.2598-62G>A
• LRG_459:g.113109G>A
• NC_000002.11:g.25457351C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs77496230

NCBI 1000 Genomes Browser:

rs77496230

Molecular consequence:

• NM_001320893.1:c.2142-62G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001375819.1:c.1929-62G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_022552.5:c.2598-62G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_153759.3:c.2031-62G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_175629.2:c.2598-62G>A - intron variant - [Sequence Ontology: SO:0001627]